ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.42156C>T (p.Ile14052=) (rs76815324)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040223 SCV000063914 benign not specified 2012-05-10 criteria provided, single submitter clinical testing Ile11484Ile in exon 179 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 1.9% (59/3094) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS/; dbSNP rs76815324)
GeneDx RCV000040223 SCV000169260 benign not specified 2013-04-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics,PreventionGenetics RCV000040223 SCV000315486 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000246384 SCV000319193 benign Cardiovascular phenotype 2013-09-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380975 SCV000423397 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270217 SCV000423398 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332334 SCV000423399 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388973 SCV000423400 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292230 SCV000423401 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349459 SCV000423402 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000474772 SCV000555342 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769026 SCV000900399 benign Cardiomyopathy 2017-09-13 criteria provided, single submitter clinical testing

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